Etiology
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
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PMID: 33576794Free PMC Article
Liu X,
Tao T,
Zhao L,
Li G,
Yang L
Clin Exp Ophthalmol
2021 Jan;49(1):46-59.
Epub 2020 Nov 2
doi: 10.1111/ceo.13875.
PMID: 33090715
Bertini E,
Zanni G,
Boltshauser E
Handb Clin Neurol
2018;155:91-103.
doi: 10.1016/B978-0-444-64189-2.00006-8.
PMID: 29891079
Takeichi T,
Akiyama M
J Dermatol
2016 Mar;43(3):242-51.
doi: 10.1111/1346-8138.13243.
PMID: 26945532
Crawford PJ,
Aldred M,
Bloch-Zupan A
Orphanet J Rare Dis
2007 Apr 4;2:17.
doi: 10.1186/1750-1172-2-17.
PMID: 17408482Free PMC Article
Diagnosis
Koster MJ,
Samec MJ,
Warrington KJ
J Clin Rheumatol
2023 Sep 1;29(6):298-306.
Epub 2022 Oct 17
doi: 10.1097/RHU.0000000000001905.
PMID: 36251488
De Silva SR,
Arno G,
Robson AG,
Fakin A,
Pontikos N,
Mohamed MD,
Bird AC,
Moore AT,
Michaelides M,
Webster AR,
Mahroo OA
Prog Retin Eye Res
2021 May;82:100898.
Epub 2020 Aug 26
doi: 10.1016/j.preteyeres.2020.100898.
PMID: 32860923
Takeichi T,
Akiyama M
J Dermatol
2016 Mar;43(3):242-51.
doi: 10.1111/1346-8138.13243.
PMID: 26945532
Crawford PJ,
Aldred M,
Bloch-Zupan A
Orphanet J Rare Dis
2007 Apr 4;2:17.
doi: 10.1186/1750-1172-2-17.
PMID: 17408482Free PMC Article
Hamel C
Orphanet J Rare Dis
2006 Oct 11;1:40.
doi: 10.1186/1750-1172-1-40.
PMID: 17032466Free PMC Article
Therapy
Koster MJ,
Samec MJ,
Warrington KJ
J Clin Rheumatol
2023 Sep 1;29(6):298-306.
Epub 2022 Oct 17
doi: 10.1097/RHU.0000000000001905.
PMID: 36251488
Pereira G,
Dória S
J Genet
2021;100
PMID: 34553695
Kashtan CE
Am J Kidney Dis
2021 Feb;77(2):272-279.
Epub 2020 Jul 22
doi: 10.1053/j.ajkd.2020.03.026.
PMID: 32712016
Niemann N,
Jankovic J
Parkinsonism Relat Disord
2019 Oct;67:74-89.
Epub 2019 Jun 30
doi: 10.1016/j.parkreldis.2019.06.025.
PMID: 31272925
Verbalis JG,
Goldsmith SR,
Greenberg A,
Korzelius C,
Schrier RW,
Sterns RH,
Thompson CJ
Am J Med
2013 Oct;126(10 Suppl 1):S1-42.
doi: 10.1016/j.amjmed.2013.07.006.
PMID: 24074529
Prognosis
Koster MJ,
Samec MJ,
Warrington KJ
J Clin Rheumatol
2023 Sep 1;29(6):298-306.
Epub 2022 Oct 17
doi: 10.1097/RHU.0000000000001905.
PMID: 36251488
Ben-Skowronek I
Genes (Basel)
2021 Feb 24;12(3)
doi: 10.3390/genes12030323.
PMID: 33668198Free PMC Article
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
Bertini E,
Zanni G,
Boltshauser E
Handb Clin Neurol
2018;155:91-103.
doi: 10.1016/B978-0-444-64189-2.00006-8.
PMID: 29891079
Hamel C
Orphanet J Rare Dis
2006 Oct 11;1:40.
doi: 10.1186/1750-1172-1-40.
PMID: 17032466Free PMC Article
Clinical prediction guides
Kunimoto H,
Miura A,
Maeda A,
Tsuchida N,
Uchiyama Y,
Kunishita Y,
Nakajima Y,
Takase-Minegishi K,
Yoshimi R,
Miyazaki T,
Hagihara M,
Yamazaki E,
Kirino Y,
Matsumoto N,
Nakajima H
Int J Hematol
2023 Oct;118(4):494-502.
Epub 2023 Apr 17
doi: 10.1007/s12185-023-03598-8.
PMID: 37062784
Wren G,
Davies W
Eur J Med Genet
2022 Apr;65(4):104459.
Epub 2022 Feb 19
doi: 10.1016/j.ejmg.2022.104459.
PMID: 35189376
Ferrada MA,
Sikora KA,
Luo Y,
Wells KV,
Patel B,
Groarke EM,
Ospina Cardona D,
Rominger E,
Hoffmann P,
Le MT,
Deng Z,
Quinn KA,
Rose E,
Tsai WL,
Wigerblad G,
Goodspeed W,
Jones A,
Wilson L,
Schnappauf O,
Laird RS,
Kim J,
Allen C,
Sirajuddin A,
Chen M,
Gadina M,
Calvo KR,
Kaplan MJ,
Colbert RA,
Aksentijevich I,
Young NS,
Savic S,
Kastner DL,
Ombrello AK,
Beck DB,
Grayson PC
Arthritis Rheumatol
2021 Oct;73(10):1886-1895.
Epub 2021 Aug 31
doi: 10.1002/art.41743.
PMID: 33779074
Moortgat S,
Berland S,
Aukrust I,
Maystadt I,
Baker L,
Benoit V,
Caro-Llopis A,
Cooper NS,
Debray FG,
Faivre L,
Gardeitchik T,
Haukanes BI,
Houge G,
Kivuva E,
Martinez F,
Mehta SG,
Nassogne MC,
Powell-Hamilton N,
Pfundt R,
Rosello M,
Prescott T,
Vasudevan P,
van Loon B,
Verellen-Dumoulin C,
Verloes A,
Lippe CV,
Wakeling E,
Wilkie AOM,
Wilson L,
Yuen A,
Study D,
Low KJ,
Newbury-Ecob RA
Eur J Hum Genet
2018 Jan;26(1):64-74.
Epub 2017 Nov 27
doi: 10.1038/s41431-017-0038-6.
PMID: 29180823Free PMC Article
Crawford PJ,
Aldred M,
Bloch-Zupan A
Orphanet J Rare Dis
2007 Apr 4;2:17.
doi: 10.1186/1750-1172-2-17.
PMID: 17408482Free PMC Article